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766050000: Distal monosomy 15q syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3660618011 Distal 15q deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660619015 Monosomy 15q26 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660620014 Distal monosomy 15q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660622018 15q26 deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660623011 Telomeric 15q deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660626015 Distal monosomy 15q syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660627012 Distal monosomy 15q syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404591015 Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404592010 Distal monosomy 15q is a rare chromosomal anomaly syndrome characterised by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphoedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3660618011 Distal 15q deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660619015 Monosomy 15q26 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660620014 Distal monosomy 15q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660622018 15q26 deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660623011 Telomeric 15q deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660626015 Distal monosomy 15q syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660627012 Distal monosomy 15q syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3660624017 A rare chromosomal anomaly syndrome characterized by pre and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation and autistic spectrum disorder have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3660625016 A rare chromosomal anomaly syndrome characterised by pre and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphoedema, heart malformations, aplasia cutis congenita, aortic root dilatation and autistic spectrum disorder have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404591015 Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404592010 Distal monosomy 15q is a rare chromosomal anomaly syndrome characterised by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphoedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3414781001000114 Distale Monosomie 15q de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5505121000241118 monosomie distale 15q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5505121000241118 monosomie distale 15q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3414781001000114 Distale Monosomie 15q de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal monosomy 15q Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 15q Finding site Chromosome pair 15 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 15q Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 15q Is a Deletion of part of chromosome 15 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 15q Is a Partial deletion of long arm of chromosome 15 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 15q Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 15q Is a Distal deletion of chromosome 15 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 15q Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 15q Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 15q Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 15q Finding site Chromosome pair 15 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 15q Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 15q Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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